Variants studied for Immunodeficiency 51

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
16	4	450	280	51	772

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
IL17RA	15	4	415	245	45	702
IL17RA, LOC129391259	0	0	14	21	1	32
IL17RA, LOC130066894	0	0	13	6	3	20
IL17RA, LOC126863094	0	0	7	8	1	15
IL17RA, LOC130066893	0	0	1	0	1	2
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	11	3	308	268	33	623
Illumina Laboratory Services, Illumina	0	0	152	18	23	193
OMIM	6	0	0	0	0	6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	5	0	0	5
Baylor Genetics	0	0	4	0	0	4
Revvity Omics, Revvity	0	0	3	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	3
New York Genome Center	0	0	2	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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